ClinVar

NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu)

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17476643 (on Assembly GRCh38)
• Chr11: 17498190 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu)

Other names:

ABCC8, 134C-T, PRO45LEU

HGVS:

• NC_000011.10:g.17476643G>A
• NG_008867.1:g.5260C>T
• NM_000352.6:c.134C>TMANE SELECT
• NM_001287174.3:c.134C>T
• NM_001351295.2:c.134C>T
• NM_001351296.2:c.134C>T
• NM_001351297.2:c.134C>T
• NP_000343.2:p.Pro45Leu
• NP_001274103.1:p.Pro45Leu
• NP_001338224.1:p.Pro45Leu
• NP_001338225.1:p.Pro45Leu
• NP_001338226.1:p.Pro45Leu
• LRG_790t1:c.134C>T
• LRG_790t2:c.134C>T
• LRG_790:g.5260C>T
• LRG_790p1:p.Pro45Leu
• LRG_790p2:p.Pro45Leu
• NC_000011.9:g.17498190G>A
• NR_147094.2:n.203C>T
• Q09428:p.Pro45Leu

This HGVS expression did not pass validation

Protein change:

P45L; PRO45LEU

Links:

UniProtKB: Q09428#VAR_072928; OMIM: 600509.0024; dbSNP: rs267606623

NCBI 1000 Genomes Browser:

rs267606623

Molecular consequence:

• NM_000352.6:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.203C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]